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Links from Gene

Items: 1 to 20 of 1491

1.

rs1490539257 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    T>-,TT [Show Flanks]
    Chromosome:
    7:127587358 (GRCh38)
    7:127227412 (GRCh37)
    Canonical SPDI:
    NC_000007.14:127587357:TTTTTTT:TTTTTT,NC_000007.14:127587357:TTTTTTT:TTTTTTTT
    Gene:
    ARF5 (Varview), GCC1 (Varview), LOC105375490 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
    Validated:
    by cluster
    HGVS:
    2.

    rs1489981304 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      7:127588495 (GRCh38)
      7:127228549 (GRCh37)
      Canonical SPDI:
      NC_000007.14:127588494:C:A
      Gene:
      ARF5 (Varview), LOC105375490 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
      HGVS:
      3.

      rs1489906335 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        7:127589905 (GRCh38)
        7:127229959 (GRCh37)
        Canonical SPDI:
        NC_000007.14:127589904:A:C
        Gene:
        ARF5 (Varview), LOC105375489 (Varview), LOC105375490 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1489738157 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          7:127590977 (GRCh38)
          7:127231031 (GRCh37)
          Canonical SPDI:
          NC_000007.14:127590976:G:A,NC_000007.14:127590976:G:C
          Gene:
          ARF5 (Varview), LOC105375489 (Varview), LOC105375490 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          C=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489511845 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            7:127589878 (GRCh38)
            7:127229932 (GRCh37)
            Canonical SPDI:
            NC_000007.14:127589877:G:A
            Gene:
            ARF5 (Varview), LOC105375489 (Varview), LOC105375490 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1489404979 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              7:127587820 (GRCh38)
              7:127227874 (GRCh37)
              Canonical SPDI:
              NC_000007.14:127587819:A:T
              Gene:
              ARF5 (Varview), LOC105375490 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1488576815 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AATT>- [Show Flanks]
                Chromosome:
                7:127587398 (GRCh38)
                7:127227452 (GRCh37)
                Canonical SPDI:
                NC_000007.14:127587397:AATT:
                Gene:
                ARF5 (Varview), GCC1 (Varview), LOC105375490 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                -=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1488540220 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  7:127586898 (GRCh38)
                  7:127226952 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:127586897:G:A
                  Gene:
                  ARF5 (Varview), GCC1 (Varview), LOC105375490 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  A=0.009346/2 (Vietnamese)
                  HGVS:
                  9.

                  rs1487555896 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    7:127588966 (GRCh38)
                    7:127229020 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:127588965:G:A
                    Gene:
                    ARF5 (Varview), LOC105375490 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1487085749 has merged into rs1003540058 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CCC>-,CC,CCCC [Show Flanks]
                      Chromosome:
                      7:127588434 (GRCh38)
                      7:127228488 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:127588430:CCCCCC:CCC,NC_000007.14:127588430:CCCCCC:CCCCC,NC_000007.14:127588430:CCCCCC:CCCCCCC
                      Gene:
                      ARF5 (Varview), LOC105375490 (Varview)
                      Functional Consequence:
                      intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CCCCC=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1486026603 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        7:127588417 (GRCh38)
                        7:127228471 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:127588416:C:G
                        Gene:
                        ARF5 (Varview), LOC105375490 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1485368272 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          7:127591567 (GRCh38)
                          7:127231621 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:127591566:G:A
                          Gene:
                          ARF5 (Varview), LOC105375489 (Varview), LOC105375490 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,3_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000023/6 (TOPMED)
                          A=0.000029/4 (GnomAD)
                          HGVS:
                          13.

                          rs1485348286 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            7:127587298 (GRCh38)
                            7:127227352 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:127587297:G:A
                            Gene:
                            ARF5 (Varview), GCC1 (Varview), LOC105375490 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1485086979 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              7:127589328 (GRCh38)
                              7:127229382 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:127589327:A:G
                              Gene:
                              ARF5 (Varview), LOC105375490 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1484866129 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                7:127589179 (GRCh38)
                                7:127229233 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:127589178:A:G
                                Gene:
                                ARF5 (Varview), LOC105375490 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1484393504 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  7:127588240 (GRCh38)
                                  7:127228294 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:127588239:A:T
                                  Gene:
                                  ARF5 (Varview), LOC105375490 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1483120568 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    7:127587513 (GRCh38)
                                    7:127227567 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:127587512:C:T
                                    Gene:
                                    ARF5 (Varview), GCC1 (Varview), LOC105375490 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000094/1 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1482826234 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      7:127588976 (GRCh38)
                                      7:127229030 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:127588975:C:G,NC_000007.14:127588975:C:T
                                      Gene:
                                      ARF5 (Varview), LOC105375490 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1482536747 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        7:127588510 (GRCh38)
                                        7:127228564 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:127588509:C:G,NC_000007.14:127588509:C:T
                                        Gene:
                                        ARF5 (Varview), LOC105375490 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000007/1 (GnomAD_exomes)
                                        G=0.000563/1 (Korea1K)
                                        HGVS:
                                        20.

                                        rs1481618932 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          7:127591936 (GRCh38)
                                          7:127231990 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:127591935:T:C
                                          Gene:
                                          ARF5 (Varview), FSCN3 (Varview), LOC105375489 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000007/1 (GnomAD_exomes)
                                          HGVS:

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